Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397517906
rs397517906
LMNA
0.925 0.080 1 156134890 missense variant C/T snv 8.0E-06
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 1.000 2 2018 2019
dbSNP: rs397517906
rs397517906
LMNA
0.925 0.080 1 156134890 missense variant C/T snv 8.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 0
dbSNP: rs397517906
rs397517906
LMNA
0.925 0.080 1 156134890 missense variant C/T snv 8.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0